Results 131 to 140 of about 11,144,186 (305)

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants

Kidney International Reports
Alport syndrome (AS) is an inherited kidney disease with significant clinical heterogeneity. Prognosis prediction and risk assessment are important to assist patient care. However, a predictive tool of disease progression is still lacking.The prediction model was developed in 363 patients (124 kidney failure events) with X-linked AS (XLAS) from a ...
Mengyao Zeng, Hongling Di, Jie Ding, Yanqin Zhang, Hong Xu, Jingyuan Xie, Jianhua Mao, Aihua Zhang, Guisen Li, Jiahui Zhang, Erzhi Gao, Dandan Liang, Qing Wang, Ling Wang, Yu An, Chunxia Zheng, Zhihong Liu   +16 more
openaire   +3 more sources

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

Clinical, genetic and molecular aspects of membranous nephropathy [PDF]

, 2011
Membranous Nephropathy (MN) is one of the leading causes of end-stage renal disease (ESRD). MN is an autoimmune disease in which autoantibodies target antigens at the level of the glomerular basement membrane.
Stanescu, H.C.
core  

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders

BMC Medical Genomics
Background Identification of genetic variations associated with early-onset high myopia (eoHM) provides a genetic basis for risk assessment and prevention of this disease.
Chunxiao Han, Shanshan Wu, Yang Yang, Xiangchun Yang, Haibo Li   +4 more
doaj   +1 more source

Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum

Journal of Clinical Neurology
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by peripheral neuropathy with or without episodic neurological dysfunction. We performed clinical, neuropathological, and genetic investigations of a series of patients with mutations of the gap-junction beta-1 gene (GJB1) to extend the phenotypic and genetic description of CMTX1 ...
Feixia Zhan, Wotu Tian, Yuwen Cao, Jingying Wu, Ruilong Ni, Taotao Liu, Yun Yuan, Xinghua Luan, Li Cao   +8 more
openaire   +2 more sources

GelMA‐based 3D spheroids recapitulate transcriptomic and functional hallmarks of myeloid sarcoma

FEBS Open Bio, EarlyView.
GelMA 5% hydrogels support the formation of myeloid leukemia spheroids that recapitulate MS‐specific features, including G1 arrest, apoptosis, and ECM‐driven transcriptomic reprogramming. The 3D model mimicked soft‐tissue‐like stiffness and oxygen conditions, and transcriptomic convergence with primary MS samples confirmed its utility as a preclinical ...
Nicolas Germain, Elise Buret, Le Hoang Thanh Nguyen, Marion Cocheteux, Nicolas Touya, Mélanie Dhayer, Romain Dubois, Frank Lafont, Sebastien Janel, Patrice Maboudou, Steve Lancel, Philippe Marchetti   +11 more
wiley   +1 more source

A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy

, 2003
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative and endocrine disorder resulting from mutations in ABCD1 which encodes a peroxisomal membrane protein in the ATP binding cassette superfamily.
Powers, James M., Lu, Jyh-Feng, Kemp, Stephan, Smith, Kirby D., Moser, Ann B., Mihalik, Stephanie, Heinzer, Ann K., Li, Yuan Yuan, Watkins, Paul A.   +8 more
core   +1 more source

A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family

International Journal of Genomics
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disease characterized by clinical symptoms such as eczema, thrombocytopenia with small platelets, immune deficiency, prone to autoimmune diseases, and malignant tumors.
Lingyu Wang, Jie Zhang, Linna Lu, Juan Ren, Yaofang Zhang, Lidong Zhao, Wukang Shen, Xucheng Hu, Shuai Fang, Xiaomei Lu, Gang Wang, Linhua Yang   +11 more
doaj   +1 more source

Identification and characterisation of calcitonin receptor isoforms expressed in glioblastoma derived glioma stem and U‐87 MG cells

FEBS Open Bio, EarlyView.
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta, Sebastian GB Furness, Tahereh Gharbi, Ric De Paoli‐Iseppi, Shweta S. Joshi, Michael Clark, David L. Hare, Peter Wookey   +7 more
wiley   +1 more source

A family case of a rare Xq28 duplication

Вавиловский журнал генетики и селекции
Genetic factors contribute to the etiology of intellectual disability in 25–50 % of cases. Chromosomal abnormalities, such as microdeletions and microduplications, are the most significant genetic causes. We examined a family where two boys, aged 8 and 7,
A. E. Kopytova, E. N. Tolmacheva, D. A. Emelina, O. S. Glotov, V. V. Miroshnikova, T. S. Usenko, O. Yu. Vasilyeva, E. D. Kasyanov, E. A. Fonova, I. V. Makarov, A. D. Lobanov, G. E. Mazo, S. N. Pchelina, I. N. Lebedev   +13 more
doaj   +1 more source